Mir Rashid, Jha Chandan K, Elfaki Imadeldin, Javid Jamsheed, Rehman Suriya, Khullar Naina, Banu Shaheena, Chahal S M S
Prince Fahd Bin Sultan Research Chair, Department of Medical Lab Technology, Faculty of Applied Medical Sciences, University of Tabuk, Tabuk, Saudi Arabia.
Department of Human Genetics, Punjabi University, Punjab, India.
Endocr Metab Immune Disord Drug Targets. 2019;19(8):1216-1223. doi: 10.2174/1871530319666190417111940.
Genetic variants in pre-microRNA genes or the 3'UTR of miRNA target genes could influence miRNA-mediated regulation of gene expression and thus contribute to the susceptibility and prognosis of human diseases. Several studies have investigated the association of genetic variants in the seed region of miRNAs with cardiometabolic phenotypes .Therefore the aim of study was to investigate the potential association of miR-4513 rs2168518 C>T gene variability with the risk of developing CAD and its association with different cardiometabolic phenotypes in an Indian cohort to stratify CAD burden in the general population.
The study was conducted on 100 clinically confirmed CAD patients and 100 healthy individuals. Genotyping of MicroR-4513 rs2168518C>T gene variability was performed using Amplification refractory mutation system PCR method.
A significant difference was observed in the genotype distribution among CAD cases and healthy controls. The frequencies of three genotypes CC, CT, TT in CAD patient and healthy controls were 5%, 77%, 18%, and 28%, 45% and 27% respectively. A multivariate analysis showed that miR- 4513 rs2168518 polymorphism is associated with an increased susceptibility to CAD in codominant inheritance model for variant CC vs. CT OR 9.58 CI (3.45-26.57), RR 2.3(1.75-3.02), P=0.001. Results also indicate a potential dominant effect of miR-4513 rs2168518 C/T polymorphism on susceptibility of CAD in dominant inheritance model for variant CC vs. (CT+TT) OR 7.38 (2.71-20.07), RR 1.96 (1.56-2.46), P=0.001. In allelic comparison, T allele weakly increased risk of CAD compared to C allele (OR=1.50, 95% CI (1.09-2.26) RR 1.15 (0.94-1.39) P=0.044.
It is concluded that CT genotype and T allele of microR-4513 rs2168518 is strongly associated with increased susceptibility to CAD. Furthers studies with larger sample sizes are necessary to confirm this result.
前体微小RNA基因或微小RNA靶基因3'非翻译区（3'UTR）中的基因变异可能影响微小RNA介导的基因表达调控，从而影响人类疾病的易感性和预后。多项研究调查了微小RNA种子区域的基因变异与心脏代谢表型之间的关联。因此，本研究的目的是在印度队列中调查miR - 4513 rs2168518 C>T基因变异与冠心病发病风险的潜在关联，及其与不同心脏代谢表型的关系，以分层普通人群中的冠心病负担。
对100例临床确诊的冠心病患者和100名健康个体进行研究。采用扩增阻滞突变系统PCR方法对MicroR - 4513 rs2168518C>T基因变异进行基因分型。
在冠心病病例和健康对照的基因型分布中观察到显著差异。冠心病患者和健康对照中三种基因型CC、CT、TT的频率分别为5%、77%、18%和28%、45%、27%。多因素分析显示，在共显性遗传模型中，对于CC与CT变异，miR - 4513 rs2168518多态性与冠心病易感性增加相关，比值比（OR）为9.58，置信区间（CI）为（3.45 - 26.57），相对危险度（RR）为2.3（1.75 - 3.02），P = 0.001。结果还表明，在显性遗传模型中，对于CC与（CT + TT）变异，miR - 4513 rs2168518 C/T多态性对冠心病易感性有潜在的显性效应，OR为7.38（2.71 - 20.07），RR为1.96（1.56 - 2.46），P = 0.001。在等位基因比较中，与C等位基因相比，T等位基因使冠心病风险略有增加（OR = 1.50，95%CI（1.09 - 2.26），RR为1.15（0.94 - 1.39），P = 0.044。
得出结论，MicroR - 4513 rs2168518的CT基因型和T等位基因与冠心病易感性增加密切相关。需要进一步进行更大样本量的研究来证实这一结果。
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